Canonical Allele Identifier: CA5082072
Gene: TMC1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.72820842G>A
GRCh37 chr9:g.75435758G>A
gnomAD v2:
9:75435758 G / A
gnomAD v3:
9:72820842 G / A
gnomAD v4:
chr9-72820842-G-A
Joint Max Group AF 0.00001298 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001213 (NFE)
ClinVar RCV:
RCV003480433
ClinVar Variation:
2683613
dbSNP:
368084452
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72820842G>A , CM000671.2:g.72820842G>A GRCh38
NC_000009.11:g.75435758G>A , CM000671.1:g.75435758G>A GRCh37
NC_000009.10:g.74625578G>A NCBI36
NG_008213.1:g.304042G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1764G>A MANE Select ENSP00000297784.6:p.Trp588Ter
ENST00000644967.1:c.*204G>A ENSP00000496159.1:n.*204G>A
ENST00000645053.1:c.1258-6027G>A ENSP00000493838.1:n.1258-6027G>A
ENST00000645208.2:c.1764G>A ENSP00000494684.1:p.Trp588Ter
ENST00000645773.1:c.1638G>A ENSP00000493698.1:p.Trp546Ter
ENST00000645787.1:n.1907G>A
ENST00000646619.1:c.1326G>A ENSP00000493726.1:p.Trp442Ter
ENST00000651183.1:c.1326G>A ENSP00000498723.1:p.Trp442Ter
ENST00000297784.9:c.1764G>A ENSP00000297784.5:p.Trp588Ter
ENST00000340019.4:c.1764G>A ENSP00000341433.3:p.Trp588Ter
ENST00000469455.1:n.245G>A
ENST00000486417.5:n.662G>A
NM_138691.2:c.1764G>A NP_619636.2:p.Trp588Ter
XM_011518213.1:c.2352G>A XP_011516515.1:p.Trp784Ter
XM_017014256.1:c.1767G>A XP_016869745.1:p.Trp589Ter
NM_138691.3:c.1764G>A MANE Select NP_619636.2:p.Trp588Ter
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